Cytogenetic Guidelines and Quality Assurance - EuroGentest

policy documents. This document includes aspects of
quality control and assurance for most of the routine
methods currently employed by cytogenetic laboratories.
The following standards should be considered
as minimum acceptable criteria, and therefore, any
laboratory consistently operating below the minimum
standard may be in danger of failing to maintain a
quality service and satisfactory performance over an
extended period of time. They should also be seen as
guidance for certification and/or accreditation of cytogenetic
laboratories.
In view of rapidly changing practices and technology,
the guidelines will be revised regularly by the Working
Group. The formation of European external
quality assessment (EQA) network is also strongly
endorsed. As some genetic tests could be performed
with a variety of technologies any EQA programme
must take this into account. Such an example could be
the analysis of Prader-Willi syndrome in which the
genetic analysis would be performed more accurately
using a molecular genetic technique, than by
cytogenetic analysis. Similarly, when looking for
small deletions/duplications FISH analysis or molecular
genetic techniques may be more appropriate to
detect the abnormality than routine chromosomal
analysis. Both cytogenetic services and cytogenetic
EQA-programmes must therefore keep up to date with
advancing technologies and in some cases this will
involve a shift from a cytogenetic to a molecular
genetic application.
At the end of this document is attached a list of national
and international guidelines and policy documents
as well as the other documents consulted in preparing
these guidelines. This list is not exhaustive and as this
is a rapidly changing area in genetics, the authors
recommend that individuals working in this field keep
abreast of the current literature and guidelines.
1.2 GENETIC COUNSELLING
The human genome is a fundamental element of
personal and familial identity. Unlike other medical
analysis, genetic tests, including cytogenetic studies,
have broader implications on a psychological, social
and reproductive level. Therefore, a vital component
in constitutional cytogenetic testing must be referred
by a medical doctor, nurse or a senior scientist trained
in the genetics field in order to ensure appropriate
expert counselling before and after testing. All genetic
testing should be done with informed consent.
2. STAFF
There are different legislations, structures and traditions
in organising cytogenetic laboratories in Europe.
In recognising these differences, the managing director
may or may not be trained/ specialised in Cytogenetics
or have the management skills for the day to
day running of a cytogenetic laboratory without a
skilled supervisor. Consequently, the management of a
laboratory can vary substantially. The following staff
structure can therefore only address the skills required
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for those involved in the daily management of a
cytogenetic laboratory.
2.1 DIRECTOR/MANAGER(/LABORATORY
SUPERVISOR
A senior physician or senior scientist, with appropriate
qualifications, should be responsible for the overall
day to day running and control of the laboratory as
well as responding to enquiries from clinicians, nurses
or scientists. The laboratory supervisors must have
adequate qualifications, education and experience for
their position. The minimum qualifications are as
follows:
M.D. with specialisation in Genetics and
Cytogenetics or
Ph.D. with specialisation in Genetics and
Cytogenetics or
Degree or B.Sc. or M.Sc. with specialisation
in Genetics and Cytogenetics or
State registration with specialisation in
Genetics and Cytogenetics
The number of years experience may depend on
national regulations. Moreover, some countries may
require additional professional qualifications.
2.2 DIAGNOSTIC WORK SUPERVISOR
/SECTION HEAD
A senior scientist or senior physician, with appropriate
qualifications and experience relevant to the laboratory’s
operations, directly supervises all the diagnostic
work in the cytogenetic laboratory.
The minimum qualifications are as follows:
Degree or B.Sc. or M.Sc. with specialisation
in Genetics and Cytogenetics or
State registration with specialisation in
Genetics and Cytogenetics
Troubleshooting in cytogenetics (constitutional,
aquired, or FISH) requires a person with specialised
training and experience.
2.3 TECHNICAL STAFF
Staff members should have adequate education for the
type of investigation they are performing. There
should be evidence that less qualified staff are
supervised by an appropriately qualified person.
2.4 TRAINEE STAFF
All trainee staff should follow a programme of
training with a designated supervisor. There should be
procedures in place to determine when a trainee is
competent at a given technique /process.
2.5 ANCILLARY STAFF
Ancillary staff may perform clerical, cleaning,
sterilisation and/or photographic work, although this
may be included in the workload of technical staff.
2.6 ADMINISTRATIVE STAFF
Administrative staff, in addition to administrative
duties, may also prepare cytogenetic reports, storage
and retrieval of cytogenetic records and general
enquiries to the department.
2.7 MEDICAL COLLABORATION
The laboratory should have access to medical
expertise on regular basis. A clinical consultant should